Sue Lomas

sue@pmsf.org

From Idea to IMPACT:Building a Foundation that Inspires Families

Sue Lomas“Sam’s Mom”

President

Phelan-McDermid Syndrome

Foundation

Sammy weighed 2 lbs 4 oz and was in the Neo-Natal Unit for almost 5 months at Arnold Palmer Hospital in Orlando, FL .

Wonder what he is thinking?

Today, his smile is contagious to everyone who knows him!

What does Phelan-McDermid Syndrome (22q13 Deletion) look like?

• Global delays• Absent or delayed

speech• Sleep Issues• Gastro Intestinal

issues• Seizures• Sensory Issues• Behaviors

Discovery of Deletion 22q13

• Dr. Katy Phelan discovered deletion while at Greenwood Genetic Center, South Carolina.

• Dr. Heather McDermid, University of Alberta, Canada, studied the 22nd

chromosome.• In 1992, Drs. Phelan and McDermid,

collaborated and identified individuals who are missing part of chromosome 22 at the q13 band.

Birth of PMS Foundation

• 1998 - the first support group meeting was held in South Carolina – 22 families attended

• 2000 – biennual meetings

• 2002 - five families formed a board

• 2003 - Foundation received non-profit status

• 2003-present – family fundraisers

• 2010 – Office established with paid staff

Why do families join the Foundation?

• Support – Emotional – Community

• Resources– Medical Information– Educational Resources– Legal Resources

• Research – Information – Opportunities to participate in research studies

The Foundation Supports Families

• Resources• Biennial family conferences• Newsletters• Website• Yahoo & Facebook

communication • Regional representatives

– & gatherings

• Fundraisers

Family Support

Sammy’s Run

Family Supported Events…Ride for Logan

Annie’s Golf Classic

What is PMS’ connection to Autism?

SHANK3 deletion / mutation association with Autism

• 2000, 22q13 deletion & PDD

http://www.ncbi.nlm.nih.gov/pubmed/10735630

• 2000, 22q13.3 deletion & autism

http://www.ncbi.nlm.nih.gov/pubmed/11121193

• 2004, 22q13 deletion & autism 

http://www.ncbi.nlm.nih.gov/pubmed/15286229

• 2005, SHANK3 implicated in autism  

http://www.ncbi.nlm.nih.gov/pubmed/16059935 

• 2007, SHANK3 & Autism  

http://www.ncbi.nlm.nih.gov/pubmed/17173049 

PMS & Autism Statistics

Dr. Alex Kolevzon, Mount Sinai Hospital, New York, (used standardized autism diagnostic measures) found:

• 50% meet strict criteria for autism and 80% have autism spectrum disorder.

Social Media Impact

• Facebook & Twitter• Raising awareness• Increasing membership

worldwide• Families communicate

daily• Increasing fundraising

# Diagnosed Individuals

1998 2000 2002 2004 2006 2008 2010 2012

26 55105

180

296

425

589

809

Families Attending Conference

1998 2000 2002 2004 2006 2008 2010 2012

2836

60

80 85

110124

172

Transitioning from family support to family AND research support

• Initial mission to support families

• Research Support Committee established in 2003

• 2010, research committee wrote the first strategic plan for science

• 2010 PMS knock out mice began to be developed by researchers

• Co-Sponsored symposium at international meeting for Autism research in Philadelphia

• 2011 1st PMS Research Symposium in NYC

• 2011 Research grants awarded by Foundation

• 2011 PMSF International Registry (PMSIR) launched

• 2012 Biosample Collections established for DNS & iPS cells

• Held symposium at 2012 biennial conference

The Future…• Continue advocacy, family support, awareness

• International growth

• Increase fundraising

• Additional research:• Registry Growth

• Bio Repository

• Increased Awareness Among Clinicians

• Establish Clinics

What’s Next? IMPACT

• I – Involve all sateholders in collecting data• M – Measure outcomes• P – Plan based on results• A – Act on possibilities• C – Communicate findings• T – Touch the lives of all with a better quality

of life